Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study.

ABSTRACT:

Objectives

Genomic sequencing (GS) is increasingly recommended as a diagnostic test for patients with suspected genetic disorders, but access often remains limited to those referred to medical geneticists. Enabling paediatric subspecialists to access GS can expedite diagnosis for families and reduce burdens on the geneticist-led model of care. Targeted implementation strategies are needed to empower paediatric subspecialists to access GS; however, data to inform these strategies are lacking.

Methods

Semi-structured interviews were conducted with 13 paediatric subspecialists (6 paediatric neurologists, 7 developmental paediatricians) and 9 genetics practitioners in Ontario, Canada, exploring barriers and facilitators to expanding access to GS amongst paediatric subspecialists

SUBMITTER: Mackley MP 

PROVIDER: S-EPMC12861534 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature